HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233250224C>T , CM000664.2:g.233250224C>T | GRCh38 |
NC_000002.11:g.234158870C>T , CM000664.1:g.234158870C>T | GRCh37 |
NC_000002.10:g.233823609C>T | NCBI36 |
NG_023038.1:g.3654C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000431917.5:c.-137-5878C>T | ENSP00000397512.1:n.-137-5878C>T |